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Hereditary ataxia with onset in adulthood v2.144 SLC9A1 Eleanor Williams Tag Q2_21_phenotype was removed from gene: SLC9A1.
Hereditary ataxia with onset in adulthood v2.144 SLC9A1 Sarah Leigh commented on gene: SLC9A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary ataxia with onset in adulthood v2.143 SLC9A1 Eleanor Williams Source Expert Review Amber was added to SLC9A1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v2.70 SLC9A1 Sarah Leigh Tag Q2_21_phenotype tag was added to gene: SLC9A1.
Hereditary ataxia with onset in adulthood v2.70 SLC9A1 Sarah Leigh commented on gene: SLC9A1
Hereditary ataxia with onset in adulthood v2.70 SLC9A1 Sarah Leigh Phenotypes for gene: SLC9A1 were changed from Lichtenstein-Knorr Syndrome to Lichtenstein-Knorr syndrome OMIM:616291; Lichtenstein-Knorr syndrome MONDO:0014572
Hereditary ataxia with onset in adulthood v2.69 SLC9A1 Sarah Leigh Publications for gene: SLC9A1 were set to
Hereditary ataxia with onset in adulthood v2.9 SLC9A1 Zornitza Stark reviewed gene: SLC9A1: Rating: RED; Mode of pathogenicity: None; Publications: 25205112, 30018422, 25760855; Phenotypes: Lichtenstein-Knorr syndrome, MIM# 616291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.188 SLC9A1 Louise Daugherty commented on gene: SLC9A1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Hereditary ataxia with onset in adulthood v1.187 SLC9A1 Louise Daugherty Source Expert Review Green was added to SLC9A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v1.33 SLC9A1 Louise Daugherty Mode of inheritance for gene: SLC9A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.33 SLC9A1 Louise Daugherty Mode of inheritance for gene: SLC9A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.32 SLC9A1 Louise Daugherty Classified gene: SLC9A1 as Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v1.32 SLC9A1 Louise Daugherty Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Hereditary ataxia with onset in adulthood v1.14 SLC9A1 Louise Daugherty commented on gene: SLC9A1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Hereditary ataxia with onset in adulthood v1.13 SLC9A1 Louise Daugherty Source London North GMS was added to SLC9A1.
Hereditary ataxia with onset in adulthood v1.11 SLC9A1 James Polke reviewed gene: SLC9A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.9 SLC9A1 Louise Daugherty Added phenotypes Lichtenstein-Knorr Syndrome for gene: SLC9A1
Hereditary ataxia with onset in adulthood v1.8 SLC9A1 Louise Daugherty reviewed gene: SLC9A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 SLC9A1 Tracy Lester reviewed gene: SLC9A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Lichtenstein-Knorr Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.2 SLC9A1 Louise Daugherty Source NHS GMS was added to SLC9A1.
Hereditary ataxia with onset in adulthood v1.1 SLC9A1 Louise Daugherty gene: SLC9A1 was added
gene: SLC9A1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SLC9A1 was set to